The Genetics of Tuberculosis Resistance

Dr. Stein (center bottom) with her Ugandan research team

Dr. Cathy Stein is a genetic epidemiologist who studies the molecular mechanisms that underly resistance to Mycobacterium tuberculosis. In collaboration with Drs. Scott Williams and Henry Boom, Dr. Stein is conducting a study in Uganda to examine individuals that are presumed resistant toM. tuberculosis infection, also called RSTRs. These individuals demonstrate persistently negative tuberculin skin tests and blood-based tests several years after close and sustained exposure to an infectious TB case in a TB-endemic setting. These individuals do not appear different from latently infected individuals with respect to other known risk factors for TB infection (see Ma et al. 2014, BMC Infectious Diseases for more details). Genetic and transcriptomic studies of this phenotype have revealed novel genes and pathways associated with RSTR, and larger validation studies are ongoing.

Dr. Stein also studies HIV-infected individuals that do not develop active TB disease despite being immunosuppressed and living in a highly-exposed, TB-endemic household setting. Dr. Stein and colleagues have recently published a genome-wide association study showing theIL12B gene as a strongly protective gene against TB (Sobota et al. 2016, Am J Hum Genet).

Dr. Stein’s work on tuberculosis resistance is funded by 2 NIH grants and a research grant from the Bill & Melinda Gates foundation.

Save the date! The third annual North Coast Conference on Precision Medicine will be held here at Case Western Reserve University's Tinkham Veale on September 28, 2017. This year's symposium will feature a combined lecture series and hands-on workshop. The overall theme of this year's symposium will focus on current topics related to collecting lifestyle/behavioral and exposure data with an emphasis on diverse populations. The workshop will feature approaches used to extract these important health determinants from electronic health records. The event is free to trainees and only $25 for faculty and staff outside of the Institute for Computational Biology.